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Fusion Gene Summary | |
Fusion Gene ORF analysis | |
Fusion Genomic Features | |
Fusion Protein Features | |
Fusion Gene Sequence | |
Fusion Gene PPI analysis | |
Related Drugs | |
Related Diseases |
Fusion gene:PEX14-CLP1 (FusionGDB2 ID:63944) |
Fusion Gene Summary for PEX14-CLP1 |
Fusion gene summary |
Fusion gene information | Fusion gene name: PEX14-CLP1 | Fusion gene ID: 63944 | Hgene | Tgene | Gene symbol | PEX14 | CLP1 | Gene ID | 5195 | 81035 |
Gene name | peroxisomal biogenesis factor 14 | collectin subfamily member 12 | |
Synonyms | NAPP2|PBD13A|Pex14p|dJ734G22.2 | CLP1|NSR2|SCARA4|SRCL | |
Cytomap | 1p36.22 | 18p11.32 | |
Type of gene | protein-coding | protein-coding | |
Description | peroxisomal membrane protein PEX14NF-E2 associated polypeptide 2PTS1 receptor docking proteinperoxin-14peroxisomal membrane anchor protein PEX14peroxisomal membrane anchor protein Pex14p | collectin-12collectin placenta protein 1collectin sub-family member 12hCL-P1nurse cell scavenger receptor 2scavenger receptor class A, member 4scavenger receptor with C-type lectin | |
Modification date | 20200313 | 20200313 | |
UniProtAcc | . | Q92989 | |
Ensembl transtripts involved in fusion gene | ENST00000356607, ENST00000538836, ENST00000492696, | ENST00000529430, ENST00000533682, ENST00000525602, ENST00000302731, | |
Fusion gene scores | * DoF score | 9 X 7 X 9=567 | 4 X 3 X 3=36 |
# samples | 13 | 5 | |
** MAII score | log2(13/567*10)=-2.12483711191377 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/36*10)=0.473931188332412 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: PEX14 [Title/Abstract] AND CLP1 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | PEX14(10555378)-CLP1(57426927), # samples:3 | ||
Anticipated loss of major functional domain due to fusion event. | PEX14-CLP1 seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF. PEX14-CLP1 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF. |
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | PEX14 | GO:0016561 | protein import into peroxisome matrix, translocation | 21525035 |
Hgene | PEX14 | GO:0032091 | negative regulation of protein binding | 21976670 |
Hgene | PEX14 | GO:0034453 | microtubule anchoring | 21525035 |
Hgene | PEX14 | GO:0036250 | peroxisome transport along microtubule | 21525035 |
Hgene | PEX14 | GO:0043433 | negative regulation of DNA-binding transcription factor activity | 11863372 |
Hgene | PEX14 | GO:0044721 | protein import into peroxisome matrix, substrate release | 21976670 |
Hgene | PEX14 | GO:0045892 | negative regulation of transcription, DNA-templated | 11863372 |
Hgene | PEX14 | GO:0065003 | protein-containing complex assembly | 21525035 |
Tgene | CLP1 | GO:0006910 | phagocytosis, recognition | 11564734 |
Tgene | CLP1 | GO:0042742 | defense response to bacterium | 11564734 |
Fusion gene breakpoints across PEX14 (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
Fusion gene breakpoints across CLP1 (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0) * All genome coordinats were lifted-over on hg19. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChimerDB4 | GBM | TCGA-06-0190-01A | PEX14 | chr1 | 10555378 | + | CLP1 | chr11 | 57426927 | + |
ChimerDB4 | GBM | TCGA-06-0190-02A | PEX14 | chr1 | 10555378 | + | CLP1 | chr11 | 57426927 | + |
ChimerDB4 | GBM | TCGA-06-0190-01A | PEX14 | chr1 | 10555378 | + | CLP1 | chr11 | 57426927 | + |
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Fusion Gene ORF analysis for PEX14-CLP1 |
Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
Frame-shift | ENST00000356607 | ENST00000529430 | PEX14 | chr1 | 10555378 | + | CLP1 | chr11 | 57426927 | + |
5CDS-5UTR | ENST00000356607 | ENST00000533682 | PEX14 | chr1 | 10555378 | + | CLP1 | chr11 | 57426927 | + |
5CDS-intron | ENST00000356607 | ENST00000525602 | PEX14 | chr1 | 10555378 | + | CLP1 | chr11 | 57426927 | + |
5CDS-5UTR | ENST00000356607 | ENST00000302731 | PEX14 | chr1 | 10555378 | + | CLP1 | chr11 | 57426927 | + |
5UTR-3CDS | ENST00000538836 | ENST00000529430 | PEX14 | chr1 | 10555378 | + | CLP1 | chr11 | 57426927 | + |
5UTR-5UTR | ENST00000538836 | ENST00000533682 | PEX14 | chr1 | 10555378 | + | CLP1 | chr11 | 57426927 | + |
5UTR-intron | ENST00000538836 | ENST00000525602 | PEX14 | chr1 | 10555378 | + | CLP1 | chr11 | 57426927 | + |
5UTR-5UTR | ENST00000538836 | ENST00000302731 | PEX14 | chr1 | 10555378 | + | CLP1 | chr11 | 57426927 | + |
intron-3CDS | ENST00000492696 | ENST00000529430 | PEX14 | chr1 | 10555378 | + | CLP1 | chr11 | 57426927 | + |
intron-5UTR | ENST00000492696 | ENST00000533682 | PEX14 | chr1 | 10555378 | + | CLP1 | chr11 | 57426927 | + |
intron-intron | ENST00000492696 | ENST00000525602 | PEX14 | chr1 | 10555378 | + | CLP1 | chr11 | 57426927 | + |
intron-5UTR | ENST00000492696 | ENST00000302731 | PEX14 | chr1 | 10555378 | + | CLP1 | chr11 | 57426927 | + |
ORFfinder result based on the fusion transcript sequence of in-frame fusion genes. |
Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
DeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated. |
Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for PEX14-CLP1 |
FusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints. |
Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
PEX14 | chr1 | 10555378 | + | CLP1 | chr11 | 57426926 | + | 3.29E-08 | 1 |
PEX14 | chr1 | 10555378 | + | CLP1 | chr11 | 57426926 | + | 3.29E-08 | 1 |
PEX14 | chr1 | 10555378 | + | CLP1 | chr11 | 57426926 | + | 3.29E-08 | 1 |
PEX14 | chr1 | 10555378 | + | CLP1 | chr11 | 57426926 | + | 3.29E-08 | 1 |
Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page. |
Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page. |
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Fusion Protein Features for PEX14-CLP1 |
Go to FGviewer for the breakpoints of :-: - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
. | CLP1 |
FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes. | FUNCTION: Polynucleotide kinase that can phosphorylate the 5'-hydroxyl groups of double-stranded RNA (dsRNA), single-stranded RNA (ssRNA), double-stranded DNA (dsDNA) and double-stranded DNA:RNA hybrids. dsRNA is phosphorylated more efficiently than dsDNA, and the RNA component of a DNA:RNA hybrid is phosphorylated more efficiently than the DNA component. Plays a key role in both tRNA splicing and mRNA 3'-end formation. Component of the tRNA splicing endonuclease complex: phosphorylates the 5'-terminus of the tRNA 3'-exon during tRNA splicing; this phosphorylation event is a prerequisite for the subsequent ligation of the two exon halves and the production of a mature tRNA (PubMed:24766809, PubMed:24766810). Its role in tRNA splicing and maturation is required for cerebellar development (PubMed:24766809, PubMed:24766810). Component of the pre-mRNA cleavage complex II (CF-II), which seems to be required for mRNA 3'-end formation. Also phosphorylates the 5'-terminus of exogenously introduced short interfering RNAs (siRNAs), which is a necessary prerequisite for their incorporation into the RNA-induced silencing complex (RISC). However, endogenous siRNAs and microRNAs (miRNAs) that are produced by the cleavage of dsRNA precursors by DICER1 already contain a 5'-phosphate group, so this protein may be dispensible for normal RNA-mediated gene silencing. {ECO:0000269|PubMed:17495927, ECO:0000269|PubMed:18648070, ECO:0000269|PubMed:24766809, ECO:0000269|PubMed:24766810}. |
Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at * Minus value of BPloci means that the break pointn is located before the CDS. |
- In-frame and retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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Fusion Gene Sequence for PEX14-CLP1 |
For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
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Fusion Gene PPI Analysis for PEX14-CLP1 |
Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in |
Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
- Retained PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
- Lost PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
- Retained PPIs, but lost function due to frame-shift fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs for PEX14-CLP1 |
Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for PEX14-CLP1 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | PEX14 | C3554004 | PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER) | 5 | CTD_human;GENOMICS_ENGLAND |
Hgene | PEX14 | C1832200 | Peroxisome biogenesis disorders | 4 | CTD_human;GENOMICS_ENGLAND |
Hgene | PEX14 | C0043459 | Zellweger Syndrome | 2 | CTD_human;GENOMICS_ENGLAND |
Hgene | PEX14 | C0751594 | Zellweger-Like Syndrome | 2 | CTD_human |
Hgene | PEX14 | C3658299 | Zellweger Spectrum | 2 | CTD_human |
Hgene | PEX14 | C0010093 | Corpus Luteum Cyst | 1 | CTD_human |
Hgene | PEX14 | C0029927 | Ovarian Cysts | 1 | CTD_human |
Tgene | CLP1 | C4014347 | PONTOCEREBELLAR HYPOPLASIA, TYPE 10 | 2 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Tgene | CLP1 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
Tgene | CLP1 | C0266468 | Congenital pontocerebellar hypoplasia | 1 | GENOMICS_ENGLAND |